ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.305C>G (p.Pro102Arg) (rs1553362937)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544063 SCV000659142 likely pathogenic Rasopathy 2017-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 102 of the SOS1 protein (p.Pro102Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Noonan syndrome (PMID: 19953625). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change that has been observed de novo in an affected individual. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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